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Peter Gill - One of the best experts on this subject based on the ideXlab platform.

  • use of low copy number DNA in forensic inference
    International Congress Series, 2003
    Co-Authors: Alex Lowe, Peter Gill, Caroline Murray, P Richardson, R Wivell, Gillian Tully, J P Whitaker
    Abstract:

    Since January 1999, the Forensic Science Service has routinely carried out low copy number (LCN) DNA Profiling in casework. To support this initiative, research has been carried out to discover the characteristics and limitations of LCN DNA by studying a series of well-defined evidence types, such as latent fingermarks, and by measuring the propensity of donors to deposit DNA onto objects that they have touched. D 2003 Elsevier Science B.V. All rights reserved.

  • application of low copy number DNA Profiling
    Croatian Medical Journal, 2001
    Co-Authors: Peter Gill
    Abstract:

    Low copy number (LCN) DNA Profiling is a technique sensitive enough to analyze just a few cells. When this kind of analysis is carried out, special considerations are needed to interpret the results. In particular, it is important to consider the implications of allele dropout and the possibility of contamination from a laboratory source. A rationale for interpreting LCN DNA is described.

  • results of a collaborative study of the eDNAp group regarding the reproducibility and robustness of the y chromosome strs dys19 dys389 i and ii dys390 and dys393 in a pcr pentaplex format
    Forensic Science International, 2001
    Co-Authors: Angel Carracedo, Peter Gill, B Brinkmann, Anna Beckmann, Auli Bengs, Alessandra Caglia, Cristian Capelli, Leonor Gusmao, Charlotte Hagelberg, Carsten Hohoff
    Abstract:

    Abstract A collaborative exercise was carried out by the European DNA Profiling Group (EDNAP) in the frame work of the STADNAP program, i.e. standardization of DNA Profiling in Europe, in order to evaluate the performance of a Y-chromosome STR pentaplex, which includes the loci DYS19, DYS389 I and II, DYS390 and DYS393 and to determine whether uniformity of results could be achieved among different European laboratories. Laboratories were asked to analyze the five Y-STRs using singleplex and multiplex conditions in three bloodstains and one mixed stain (95% female and 5% male). All the laboratories reported the same results even for the mixed stain included in the exercise. This demonstrates the reproducibility and robustness of Y-chromosome STR typing even with multiplex formats and proves the usefulness of Y-STR systems for analyzing mixed stains with a male component. A total of 930 male samples from 10 different populations from Europe were also analysed for all the loci included in the pentaplex. Eight of these ten populations also included haplotype data. As for single gene analysis, haplotype diversity was higher in Germany and Italy and lower in Western European countries and Finland. Pairwise haplotype analysis shows the Finnish departure from the rest of the populations and a relatively homogeneity in the other European populations with F ST estimates lower than 0.05. UPGMA analysis shows an association of Western European population (Ireland, UK, Portugal and Galicia) on the one hand and central European populations on the other.

  • report of the european DNA Profiling group eDNAp towards standardisation of short tandem repeat str loci
    Forensic Science International, 1994
    Co-Authors: Peter Gill, C. P. Kimpton, Ernesto Daloja, J Andersen, W Bar, B Brinkmann, S Holgersson, V Johnsson, A D Kloosterman, M V Lareu
    Abstract:

    Abstract This paper describes a collaborative exercise intended to demonstrate whether uniformity of DNA Profiling results could be achieved between European laboratories using short tandem repeat (STR) loci. Two different STRs were chosen — HUMTH01 and the AT-rich HUMACTBP2 (SE33). The former locus has only five common alleles, whereas the latter is complex and has at least 30 alleles. Laboratories were asked to test seven blood stains and to report the results to the coordinating laboratory. The exercise demonstrated that the simple STR systems such as HUMTH01 are more amenable to adoption as standard loci than complex AT-rich systems.

  • automated DNA Profiling employing multiplex amplification of short tandem repeat loci
    Genome Research, 1993
    Co-Authors: C. P. Kimpton, Peter Gill, A. Urquhart, Emma S Millican, A Walton, Maia Adams
    Abstract:

    Short tandem repeat (STR) loci are a class of polymorphic markers which occur throughout the human genome and which consist of simple tandemly repeated sequences 1–6bp in length. Their abundance, hypervariability and amenability to amplification by the polymerase chain reaction (PCR) make them ideal markers for use in the identification of individuals.

J P Whitaker - One of the best experts on this subject based on the ideXlab platform.

  • familial searching a specialist forensic DNA Profiling service utilising the national DNA database to identify unknown offenders via their relatives the uk experience
    Forensic Science International-genetics, 2014
    Co-Authors: C N Maguire, L A Mccallum, C Storey, J P Whitaker
    Abstract:

    The National DNA Database (NDNAD) of England and Wales was established on April 10th 1995. The NDNAD is governed by a variety of legislative instruments that mean that DNA samples can be taken if an individual is arrested and detained in a police station. The biological samples and the DNA profiles derived from them can be used for purposes related to the prevention and detection of crime, the investigation of an offence and for the conduct of a prosecution. Following the South East Asian Tsunami of December 2004, the legislation was amended to allow the use of the NDNAD to assist in the identification of a deceased person or of a body part where death has occurred from natural causes or from a natural disaster. The UK NDNAD now contains the DNA profiles of approximately 6 million individuals representing 9.6% of the UK population. As the science of DNA Profiling advanced, the National DNA Database provided a potential resource for increased intelligence beyond the direct matching for which it was originally created. The familial searching service offered to the police by several UK forensic science providers exploits the size and geographic coverage of the NDNAD and the fact that close relatives of an offender may share a significant proportion of that offender's DNA profile and will often reside in close geographic proximity to him or her. Between 2002 and 2011 Forensic Science Service Ltd. (FSS) provided familial search services to support 188 police investigations, 70 of which are still active cases. This technique, which may be used in serious crime cases or in 'cold case' reviews when there are few or no investigative leads, has led to the identification of 41 perpetrators or suspects. In this paper we discuss the processes, utility, and governance of the familial search service in which the NDNAD is searched for close genetic relatives of an offender who has left DNA evidence at a crime scene, but whose DNA profile is not represented within the NDNAD. We discuss the scientific basis of the familial search approach, other DNA-based methods for eliminating individuals from the candidate lists generated by these NDNAD searches, the value of filtering these lists by age, ethnic appearance and geography and the governance required by the NDNAD Strategy Board when a police force commissions a familial search. We present the FSS data in relation to the utility of the familial searching service and demonstrate the power of the technique by reference to casework examples. We comment on the uptake of familial searching of DNA databases in the USA, the Netherlands, Australia, and New Zealand. Finally, following the adverse ruling by the European Court of Human Rights against the UK in regard to the S & Marper cases and the consequent introduction of the Protection of Freedoms Act (2012), we discuss the impact that changes to regulations concerning the storage of DNA samples will have on the continuing provision of familial searching of the National DNA Database in England and Wales.

  • use of low copy number DNA in forensic inference
    International Congress Series, 2003
    Co-Authors: Alex Lowe, Peter Gill, Caroline Murray, P Richardson, R Wivell, Gillian Tully, J P Whitaker
    Abstract:

    Since January 1999, the Forensic Science Service has routinely carried out low copy number (LCN) DNA Profiling in casework. To support this initiative, research has been carried out to discover the characteristics and limitations of LCN DNA by studying a series of well-defined evidence types, such as latent fingermarks, and by measuring the propensity of donors to deposit DNA onto objects that they have touched. D 2003 Elsevier Science B.V. All rights reserved.

Manfred Kayser - One of the best experts on this subject based on the ideXlab platform.

  • From forensic epigenetics to forensic epigenomics: broadening DNA investigative intelligence
    Genome Biology, 2017
    Co-Authors: Athina Vidaki, Manfred Kayser
    Abstract:

    Human genetic variation is a major resource in forensics, but does not allow all forensically relevant questions to be answered. Some questions may instead be addressable via epigenomics, as the epigenome acts as an interphase between the fixed genome and the dynamic environment. We envision future forensic applications of DNA methylation analysis that will broaden DNA-based forensic intelligence. Together with genetic prediction of appearance and biogeographic ancestry, epigenomic lifestyle prediction is expected to increase the ability of police to find unknown perpetrators of crime who are not identifiable using current forensic DNA Profiling.

  • forensic use of y chromosome DNA a general overview
    Human Genetics, 2017
    Co-Authors: Manfred Kayser
    Abstract:

    The male-specific part of the human Y chromosome is widely used in forensic DNA analysis, particularly in cases where standard autosomal DNA Profiling is not informative. A Y-chromosomal gene fragment is applied for inferring the biological sex of a crime scene trace donor. Haplotypes composed of Y-chromosomal short tandem repeat polymorphisms (Y-STRs) are used to characterise paternal lineages of unknown male trace donors, especially suitable when males and females have contributed to the same trace, such as in sexual assault cases. Y-STR haplotyping applied in crime scene investigation can (i) exclude male suspects from involvement in crime, (ii) identify the paternal lineage of male perpetrators, (iii) highlight multiple male contributors to a trace, and (iv) provide investigative leads for finding unknown male perpetrators. Y-STR haplotype analysis is employed in paternity disputes of male offspring and other types of paternal kinship testing, including historical cases, as well as in special cases of missing person and disaster victim identification involving men. Y-chromosome polymorphisms are applied for inferring the paternal bio-geographic ancestry of unknown trace donors or missing persons, in cases where autosomal DNA Profiling is uninformative. In this overview, all different forensic applications of Y-chromosome DNA are described. To illustrate the necessity of forensic Y-chromosome analysis, the investigation of a prominent murder case is described, which initiated two changes in national forensic DNA legislation both covering Y-chromosome use, and was finally solved via an innovative Y-STR dragnet involving thousands of volunteers after 14 years. Finally, expectations for the future of forensic Y-chromosome DNA analysis are discussed.

  • forensic DNA phenotyping predicting human appearance from crime scene material for investigative purposes
    Forensic Science International-genetics, 2015
    Co-Authors: Manfred Kayser
    Abstract:

    Abstract Forensic DNA Phenotyping refers to the prediction of appearance traits of unknown sample donors, or unknown deceased (missing) persons, directly from biological materials found at the scene. “Biological witness” outcomes of Forensic DNA Phenotyping can provide investigative leads to trace unknown persons, who are unidentifiable with current comparative DNA Profiling. This intelligence application of DNA marks a substantially different forensic use of genetic material rather than that of current DNA Profiling presented in the courtroom. Currently, group-specific pigmentation traits are already predictable from DNA with reasonably high accuracies, while several other externally visible characteristics are under genetic investigation. Until individual-specific appearance becomes accurately predictable from DNA, conventional DNA Profiling needs to be performed subsequent to appearance DNA prediction. Notably, and where Forensic DNA Phenotyping shows great promise, this is on a (much) smaller group of potential suspects, who match the appearance characteristics DNA-predicted from the crime scene stain or from the deceased person’s remains. Provided sufficient funding being made available, future research to better understand the genetic basis of human appearance will expectedly lead to a substantially more detailed description of an unknown person’s appearance from DNA, delivering increased value for police investigations in criminal and missing person cases involving unknowns.

  • improving human forensics through advances in genetics genomics and molecular biology
    Nature Reviews Genetics, 2011
    Co-Authors: Manfred Kayser, Peter De Knijff
    Abstract:

    Forensic DNA Profiling currently allows the identification of persons already known to investigating authorities. Recent advances have produced new types of genetic markers with the potential to overcome some important limitations of current DNA Profiling methods. Moreover, other developments are enabling completely new kinds of forensically relevant information to be extracted from biological samples. These include new molecular approaches for finding individuals previously unknown to investigators, and new molecular methods to support links between forensic sample donors and criminal acts. Such advances in genetics, genomics and molecular biology are likely to improve human forensic case work in the near future.

Peter M Schneider - One of the best experts on this subject based on the ideXlab platform.

  • basic issues in forensic DNA typing
    Forensic Science International, 1997
    Co-Authors: Peter M Schneider
    Abstract:

    DNA analysis has become the standard method in forensic stain typing (termed DNA Profiling). In contrast to conventional serological methods, any human tissue or body fluid can be analysed by DNA Profiling as long as it contains nucleated cells. The majority of genetic systems studied at the DNA level are derived from "non-coding" portions from the human genome, and are located either in the vicinity of expressed (coding) genes or in stretches of DNA sequences interspersing with the genes. The typing results are usually recorded as DNA fragment lengths or "alleles" indicating the number of core repeat elements for short tandem repeat systems. These typing results do not contain any useful information which might reveal genetic traits or predispositions for inherited disease about the individual studied. Typing systems for DNA Profiling are predominantly selected according to criteria related to the robustness for typing of (potentially degraded) forensic specimens, the degree of genetic polymorphism (which influences the chance to exclude a wrongfully accused person), and the amenability to standardisation as a basis to obtain reproducible results.

Andrew P Bradford - One of the best experts on this subject based on the ideXlab platform.

  • DNA Profiling analysis of endometrial and ovarian cell lines reveals misidentification redundancy and contamination
    Gynecologic Oncology, 2012
    Co-Authors: Christopher Korch, Monique A Spillman, Twila A Jackson, Britta M Jacobsen, Susan K Murphy, Bruce A Lessey, Craig V Jordan, Andrew P Bradford
    Abstract:

    article i nfo Objectives. Cell lines derived from human ovarian and endometrial cancers, and their immortalized non- malignant counterparts, are critical tools to investigate and characterize molecular mechanisms underlying gynecologic tumorigenesis, and facilitate development of novel therapeutics. To determine the extent of mis- identification, contamination and redundancy, with evident consequences for the validity of research based upon these models, we undertook a systematic analysis and cataloging of endometrial and ovarian cell lines. Methods. Profiling of cell lines by analysis of DNA microsatellite short tandem repeats (STR), p53 nucleo- tide polymorphisms and microsatellite instability was performed. Results. Fifty-one ovarian cancer lines were profiled with ten found to be redundant and five (A2008, OV2008, C13, SK-OV-4 and SK-OV-6) identified as cervical cancer cells. Ten endometrial cell lines were ana- lyzed, with RL-92, HEC-1A, HEC-1B, HEC-50, KLE, and AN3CA all exhibiting unique, uncontaminated STR pro- files. Multiple variants of Ishikawa and ECC-1 endometrial cancer cell lines were genotyped and analyzed by sequencing of mutations in the p53 gene. The profile of ECC-1 cells did not match the EnCa-101 tumor, from which it was reportedly derived, and all ECC-1 isolates were genotyped as Ishikawa cells, MCF-7 breast can- cer cells, or a combination thereof. Two normal, immortalized endometrial epithelial cell lines, HES cells and the hTERT-EEC line, were identified as HeLa cervical carcinoma and MCF-7 breast cancer cells, respectively. Conclusions. Results demonstrate significant misidentification, duplication, and loss of integrity of endo- metrial and ovarian cancer cell lines. Authentication by STR DNA Profiling is a simple and economical method to verify and validate studies undertaken with these models.